Pfister M - Search Results

1

[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].

Tóth T, Kupka S, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: pfister m. Orv Hetil. 2002 Oct 6;143(40):2285-9. Orv Hetil. 2002. PMID: 12420583 Hungarian.

2

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Tóth T, Kupka S, Haack B, Riemann K, Braun S, Fazakas F, Zenner HP, Muszbek L, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: pfister m. Hum Mutat. 2004 Jun;23(6):631-2. doi: 10.1002/humu.9250. Hum Mutat. 2004. PMID: 15146474

3

Frequency of the recessive 30delG mutation in the GJB2 gene in Northeast-Hungarian individuals and patients with hearing impairment.

Tóth T, Kupka S, Esmer H, Zeissler U, Sziklai I, Zenner HP, Blin N, Pfister M. Tóth T, et al. Among authors: pfister m. Int J Mol Med. 2001 Aug;8(2):189-92. Int J Mol Med. 2001. PMID: 11445873

4

[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].

Tóth T, Kupka S, Sziklai I, Blin N, Zenner HP, Pfister M. Tóth T, et al. Among authors: pfister m. HNO. 2003 May;51(5):400-4. doi: 10.1007/s00106-002-0737-2. Epub 2003 Mar 27. HNO. 2003. PMID: 12835856 German.

5

Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.

Tóth T, Pfister M, Zenner HP, Sziklai I. Tóth T, et al. Among authors: pfister m. Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):201-6. doi: 10.1016/j.ijporl.2005.06.011. Epub 2005 Jul 25. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16043233

6

Coincidence of mutations in different connexin genes in Hungarian patients.

Tóth T, Kupka S, Haack B, Fazakas F, Muszbek L, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: pfister m. Int J Mol Med. 2007 Sep;20(3):315-21. Int J Mol Med. 2007. PMID: 17671735

7

[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].

Tóth T, Kupka S, Nürnberg P, Thiele H, Zenner HP, Sziklai I, Pfister M. Tóth T, et al. Among authors: pfister m. HNO. 2004 Feb;52(2):132-6. doi: 10.1007/s00106-003-0912-0. HNO. 2004. PMID: 14968315 German.

8

[Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis].

Riemann K, Pfister M, Blin N, Kupka S. Riemann K, et al. Among authors: pfister m. HNO. 2004 Jun;52(6):503-9. doi: 10.1007/s00106-003-0993-9. HNO. 2004. PMID: 15241512 Review. German.

9

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

Kupka S, Tóth T, Wróbel M, Zeissler U, Szyfter W, Szyfter K, Niedzielska G, Bal J, Zenner HP, Sziklai I, Blin N, Pfister M. Kupka S, et al. Among authors: pfister m. Hum Mutat. 2002 Mar;19(3):308-9. doi: 10.1002/humu.9017. Hum Mutat. 2002. PMID: 11857751

10

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: pfister m. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

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